title: Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy.
authors.affiliation: Department of Pediatrics, University of British Columbia, Vancouver, Canada.
authors.forename: M B
authors.initials: MB
authors.lastname: Coulter-Mackie
authors.forename: L
authors.initials: L
authors.lastname: Gagnier
mesh_terms: D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution; D000818:Animals; D019556:COS Cells; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology / Q000235:genetics*; D008297:Male; D009154:Mutation; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D004247:DNA; D002553:Cerebroside-Sulfatase